Molecular diagnostics of hearing loss due to mutations in the SLC26A4 gene in indigenous peoples of Southern Siberia (Russia)

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Valeriia Yuryevna Danilchenko¹, Marina Vyacheslavovna Zytsar², Marita Sergeevna Bady-Khoo³, Ekaterina Alexandrovna Maslova⁴, Olga Leonidovna Posukh^5
1Federal Research Center Institute of Cytology and Genetics, danilchenko_valeri@mail.ru
²Federal Research Center Institute of Cytology and Genetics, zytzar@bionet.nsc.ru
³Perinatal Center of the Republic of Tyva, marita.badyhoo@mail.ru
⁴Federal Research Center Institute of Cytology and Genetics; Novosibirsk State University, maslova@bionet.nsc.ru
⁵Federal Research Center Institute of Cytology and Genetics; Novosibirsk State University, posukh@bionet.nsc.ru

Establishing a genetic diagnosis of hearing loss is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Mutations in the SLC26A4 gene are a common cause of hearing loss in many regions of the world. This study presents the results of the first molecular genetic analysis of the SLC26A4 gene sequence performed in patients with hearing loss of unknown etiology belonging to indigenous peoples of Southern Siberia – Tuvinians (the Tyva Republic) and Altaians (the Altai Republic). Contrast differences of the SLC26A4 pathogenic contribution to the etiology of hearing impairment were revealed: 28.2% for Tuvinians and 4.3% for Altaians. Both known and novel pathogenic variants as well as a wide range of polymorphic variants were found in the SLC26A4 gene sequences of examined patients. High frequency of mutation c.919-2A>G in Tuvinians is probably due to the founder effect.